ReviewNature reviews. Genetics2015
Estimating the mutation load in human genomes.
Review in Nature reviews. Genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 152 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
152 citing papers in PubMed.
- Whole-exome analysis in Tunisian Imazighen and Arabs shows the impact of demography in functional variation.Scientific reports · 2021Trial
- MtDNA genomes reveal a relaxation of selective constraints in low-BMI individuals in a Uyghur population.Human genetics · 2017Trial
- Dynamics of mutators of arbitrary dominance in humans.bioRxiv : the preprint server for biology · 2026Article
- Measuring the change in deleterious mutation burden of barley germplasm conserved over one regeneration cycle.G3 (Bethesda, Md.) · 2026Article
- Investigations on transferability of polygenic risk scores depending on demography and dominance coefficients.HGG advances · 2026Article
- The relationship between genomic variation and genetic load: insights from small island populations.Heredity · 2026Article
- The distribution of fitness effects of new mutations in regulatory regions of thebioRxiv : the preprint server for biology · 2026Article
- Unveiling the significance of dog domestication in cognitive dysfunction: Are wolves protected?Open veterinary journal · 2025Article
- Common DNA sequence variation influences epigenetic aging in African populations.Communications biology · 2025Article
- Rare diseases load through the study of a regional population.PLoS genetics · 2025Article
- Accumulating Heterozygous Deleterious Mutations in Conserved Soybean Germplasm over Successive Regenerations.Plants (Basel, Switzerland) · 2025Article
- Population Genomic Analysis Provides Insights Into the Evolution and Conservation of Two Critically Endangered Musk Deer Species.Evolutionary applications · 2025Article
- Genetic Variants Affect Distinct Metabolic Pathways in Pediatric Multisystem Inflammatory Syndrome and Severe COVID-19.Journal of medical virology · 2025Article
- Elevated Mutation Burdens in Canadian Oat and Wheat Cultivars Released over the Past Century.Cells · 2025Article
- HAP-SAMPLE2: data-based resampling for association studies with admixture.Bioinformatics (Oxford, England) · 2025Article
- The distribution of highly deleterious variants across human ancestry groups.Proceedings of the National Academy of Sciences of the United States of America · 2025Article
- The landscape of fitness effects of putatively functional noncoding mutations in humans.bioRxiv : the preprint server for biology · 2025Article
- Enhancing inbreeding estimation and global conservation insights through chromosome-level assemblies of the Chinese and Malayan pangolin.GigaScience · 2025Article
- A reduction in effective population size has not relaxed purifying selection in the human population of Eivissa (Balearic Islands).Scientific reports · 2025Article
- Article
92 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
5 authors.
Funding
Abstract
Next-generation sequencing technology has facilitated the discovery of millions of genetic variants in human genomes. A sizeable fraction of these variants are predicted to be deleterious. Here, we review the pattern of deleterious alleles as ascertained in genome sequencing data sets and ask whether human populations differ in their predicted burden of deleterious alleles - a phenomenon known as mutation load. We discuss three demographic models that are predicted to affect mutation load and relate these models to the evidence (or the lack thereof) for variation in the efficacy of purifying selection in diverse human genomes. We also emphasize why accurate estimation of mutation load depends on assumptions regarding the distribution of dominance and selection coefficients - quantities that remain poorly characterized for current genomic data sets.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.